Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36993254C>A , CM000665.2:g.36993254C>A | GRCh38 |
| NC_000003.11:g.37034745C>A , CM000665.1:g.37034745C>A | GRCh37 |
| NC_000003.10:g.37009749C>A | NCBI36 |
| NG_007109.2:g.4905C>A , LRG_216:g.4905C>A | |
| NG_008418.1:g.5051G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673673.2:c.-294C>A (MLH1) | ENSP00000500979.2:n.-294C>A | |
| NM_014805.3:c.-177G>T (EPM2AIP1) | NP_055620.1:n.-177G>T |